Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited

Friedreich ataxia (FRDA) is the most common form of ataxia in late childhood. Neurological manifestations often pre-cede cardiac involvement, presenting mainly as hypertrophic cardiomyopathy. We describe a toddler with apparently iso-lated severe heart failure, successfully managed with heart transplant (HT). Although well described in adolescents and adults, onset of FRDA is very uncommon in toddlers and neurological ataxic features are predominant. The presenting symptom of cardiomyopathy is very rare. Similar history is rarely reported in literature, that we described, including an aggressive cardiomyopathy in children younger than 5 years-old. RESULTS: Our patient was diagnosed with FRDA at a postoperative stage due to minimal neurological manifestations. Moreover, the novelty of this study lies in demonstrating a major DNA triplet repeat expansion in skeletal muscle compared to DNA from peripheral blood leukocytes. These re-sults support the concept that triplet repeat expansion is variable among different tissues in FRDA, and in our case it was more expanded in the post mitotic muscular tissue than in blood cells. We believe on the importance of taking in consid-eration this rare condition even in a toddler with apparently isolated cardiomyopathy and especially when conventional investigations give negative results. We discuss potential trigger effect of HT as a precipitating factor in manifesting neurological symptoms. This observation corresponds to our experience and relates to three patients described so far (the third patient died suddenly). Early onset cardiomyopathy with FRDA should increase awareness of this rare condition and we highlight HT successful outcome. Further reports are needed to delineate this rare condition in youngsters.

Automated summary

This article describes a toddler with severe heart failure who was successfully managed with a heart transplant. The authors emphasize the rarity of early onset Friedreich ataxia (FRDA) in toddlers and the need for further research on the variability of triplet repeat expansion in different tissues. They suggest considering FRDA even in cases of isolated cardiomyopathy and discuss the potential triggering effect of heart transplant on neurological symptoms.